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Select item 87357441.

Late-infantile GM1 gangliosidosis: A case report

Eu Seon Noh, Hye Mi Park, Min Sun Kim, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin

Medicine (Baltimore) 2022 Jan 7; 101(1): e28435. Published online 2022 Jan 7. doi: 10.1097/MD.0000000000028435

PMCID:: PMC8735744

Abstract Article PDF–453K

Select item 62764262.

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing

Ahmed Bouhouche, Houyam Tibar, Yamna Kriouale, Mohammed Jiddane, Imane Smaili, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Elmostafa El Fahime

Case Rep Genet. 2018; 2018: 8635698. Published online 2018 Nov 15. doi: 10.1155/2018/8635698

PMCID:: PMC6276426

Abstract Article PDF–2.1M

Select item 63056653.

Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II

John E. Richter, Jr., Michael T. Zimmermann, Patrick R. Blackburn, Ahmed N. Mohammad, Eric W. Klee, Laura M. Pollard, Colleen F. Macmurdo, Paldeep S. Atwal, Thomas R. Caulfield

Mol Genet Genomic Med. 2018 Nov; 6(6): 1229–1235. Published online 2018 Sep 5. doi: 10.1002/mgg3.454

PMCID:: PMC6305665

Abstract Article PDF–1.4M

Select item 70515754.

MR Imaging Findings in 2 Cases of Late Infantile GM1 Gangliosidosis

E. De Grandis, M. Di Rocco, A. Pessagno, E. Veneselli, A. Rossi

AJNR Am J Neuroradiol. 2009 Aug; 30(7): 1325–1327. doi: 10.3174/ajnr.A1508

PMCID:: PMC7051575

Abstract Article

Select item 83374795.

Neuroimaging findings in late infantile GM1 gangliosidosis.

C Y Chen, R A Zimmerman, C C Lee, F H Chen, Y S Yuh, H S Hsiao

AJNR Am J Neuroradiol. 1998 Oct; 19(9): 1628-30.

PMCID:: PMC8337479

Summary PDF–238K

Select item 108361256.

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

Precilla D’Souza, Cristan Farmer, Jean Johnston, Sangwoo T Han, David Adams, Adam L. Hartman, Wadih Zein, Laryssa A. Huryn, Beth Solomon, Kelly King, Christopher Jordan, Jennifer Myles, Elena-Raluca Nicoli, Caroline E Rothermel, Yoliann Mojica Algarin, Reyna Huang, Rachel Quimby, Mosufa Zainab, Sarah Bowden, Anna Crowell, Ashura Buckley, Carmen Brewer, Deborah Regier, Brian Brooks, Eva Baker, Gilbert Vézina, Audrey Thurm, Cynthia J Tifft

Version 1. medRxiv. Preprint. 2024 Jan 4. doi: 10.1101/2024.01.04.24300778

Published in:: Genet Med. 2024 Jul; 26(7): 101144.

PMCID:: PMC10836125

Abstract Article PDF–3.5M

Select item 3076677.

Chemical chaperone therapy for brain pathology in G_M1-gangliosidosis

Junichiro Matsuda, Osamu Suzuki, Akihiro Oshima, Yoshie Yamamoto, Akira Noguchi, Kazuhiro Takimoto, Masayuki Itoh, Yuji Matsuzaki, Yosuke Yasuda, Seiichiro Ogawa, Yuko Sakata, Eiji Nanba, Katsumi Higaki, Yoshimi Ogawa, Lika Tominaga, Kousaku Ohno, Hiroyuki Iwasaki, Hiroshi Watanabe, Roscoe O. Brady, Yoshiyuki Suzuki

Proc Natl Acad Sci U S A. 2003 Dec 23; 100(26): 15912–15917. Published online 2003 Dec 15. doi: 10.1073/pnas.2536657100

PMCID:: PMC307667

Abstract Article PDF–610K

Select item 16823928.

Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.

R M Boustany, W H Qian, K Suzuki

Am J Hum Genet. 1993 Oct; 53(4): 881–888.

PMCID:: PMC1682392

Summary Page Browse PDF–1.5M

Select item 55131079.

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi

BMC Med Genet. 2017; 18: 73. Published online 2017 Jul 17. doi: 10.1186/s12881-017-0417-4

PMCID:: PMC5513107

Abstract Article PDF–586K

Select item 693752210.

The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.

Carlos R. Ferreira, Debra S. Regier, Robin Yoon, Kristen S. Pan, Jean M. Johnston, Sandra Yang, Jürgen W. Spranger, Cynthia J. Tifft

Bone. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Bone. 2020 Feb; 131: 115142. Published online 2019 Nov 6. doi: 10.1016/j.bone.2019.115142

PMCID:: PMC6937522

Abstract Article PDF–843K

Select item 321055211.

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

Anna Caciotti, Scott C Garman, Yadilette Rivera-Colón, Elena Procopio, Serena Catarzi, Lorenzo Ferri, Carmen Guido, Paola Martelli, Rossella Parini, Daniela Antuzzi, Roberta Battini, Michela Sibilio, Alessandro Simonati, Elena Fontana, Alessandro Salviati, Gulcin Akinci, Cristina Cereda, Carlo Dionisi-Vici, Francesca Deodato, Adele d’Amico, Alessandra d’Azzo, Enrico Bertini, Mirella Filocamo, Maurizio Scarpa, Maja di Rocco, Cynthia J Tifft, Federica Ciani, Serena Gasperini, Elisabetta Pasquini, Renzo Guerrini, Maria Alice Donati, Amelia Morrone

Biochim Biophys Acta. Author manuscript; available in PMC 2011 Nov 8.

Published in final edited form as: Biochim Biophys Acta. 2011 Jul; 1812(7): 782–790. Published online 2011 Apr 7. doi: 10.1016/j.bbadis.2011.03.018

PMCID:: PMC3210552

Abstract Article PDF–3.1M

Select item 326586212.

Crystal Structure of Human β-Galactosidase: STRUCTURAL BASIS OF G_M1 GANGLIOSIDOSIS AND MORQUIO B DISEASES

Umeharu Ohto, Kimihito Usui, Toshinari Ochi, Kenjiro Yuki, Yoshinori Satow, Toshiyuki Shimizu

J Biol Chem. 2012 Jan 13; 287(3): 1801–1812. Published online 2011 Nov 28. doi: 10.1074/jbc.M111.293795

PMCID:: PMC3265862

Abstract Article PDF–5.5M

Select item 122110613.

Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.

S Zhang, R Bagshaw, W Hilson, Y Oho, A Hinek, J T Clarke, J W Callahan

Biochem J. 2000 Jun 15; 348(Pt 3): 621–632.

PMCID:: PMC1221106

Summary PDF–297K

Select item 589962214.

SAAMP 2.0: an algorithm to predict genotype-phenotype correlation of lysosomal storage diseases

Li Ou, Michael J Przybilla, Chester B Whitley

Clin Genet. Author manuscript; available in PMC 2019 May 1.

Published in final edited form as: Clin Genet. 2018 May; 93(5): 1008–1014. Published online 2018 Mar 5. doi: 10.1111/cge.13226

PMCID:: PMC5899622

Abstract Article PDF–1.0M

Select item 475112215.

GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan

Hiroshi UENO, Osamu YAMATO, Takeshi SUGIURA, Moeko KOHYAMA, Akira YABUKI, Kenjiro MIYOSHI, Kazuya MATSUDA, Tsuyoshi UCHIDE

J Vet Med Sci. 2016 Jan; 78(1): 91–95. Published online 2015 Aug 3. doi: 10.1292/jvms.15-0281

PMCID:: PMC4751122

Abstract Article PDF–1.2M

Select item 434236916.

Myelin Abnormalities in the Optic and Sciatic Nerves in Mice With GM1-Gangliosidosis

Karie A. Heinecke, Adrienne Luoma, Alessandra d’Azzo, Daniel A. Kirschner, Thomas N. Seyfried

ASN Neuro. 2015 Jan-Feb; 7(1): 1759091415568913. Published online 2015 Feb 13. doi: 10.1177/1759091415568913

PMCID:: PMC4342369

Abstract Article PDF–627K

Select item 403151317.

Structural Basis of Pharmacological Chaperoning for Human β-Galactosidase

Hironori Suzuki, Umeharu Ohto, Katsumi Higaki, Teresa Mena-Barragán, Matilde Aguilar-Moncayo, Carmen Ortiz Mellet, Eiji Nanba, Jose M. Garcia Fernandez, Yoshiyuki Suzuki, Toshiyuki Shimizu

J Biol Chem. 2014 May 23; 289(21): 14560–14568. Published online 2014 Apr 15. doi: 10.1074/jbc.M113.529529

PMCID:: PMC4031513

Abstract Article PDF–1.6M

Select item 392616018.

Carrier Rates of Four Single-Gene Disorders in Croatian Bayash Roma

Ana Barešić, Marijana Peričić Salihović

Genet Test Mol Biomarkers. 2014 Feb 1; 18(2): 83–87. doi: 10.1089/gtmb.2013.0323

PMCID:: PMC3926160

Abstract Article PDF–160K

Select item 370156719.

Molecular epidemiology of canine GM1 gangliosidosis in the Shiba Inu breed in Japan: relationship between regional prevalence and carrier frequency

Mohammad M Uddin, Sayaka Arata, Yukari Takeuchi, Hye-Sook Chang, Keijiro Mizukami, Akira Yabuki, Mohammad M Rahman, Moeko Kohyama, Mohammad A Hossain, Kenji Takayama, Osamu Yamato

BMC Vet Res. 2013; 9: 132. Published online 2013 Jul 3. doi: 10.1186/1746-6148-9-132

PMCID:: PMC3701567

Abstract Article PDF–446K

Select item 342686120.

Single Molecule Analysis of Serotonin Transporter Regulation Using Antagonist-Conjugated Quantum Dots Reveals Restricted, p38 MAPK-Dependent Mobilization Underlying Uptake Activation

Jerry C. Chang, Ian D. Tomlinson, Michael R. Warnement, Alessandro Ustione, Ana M. D. Carneiro, David W. Piston, Randy D. Blakely, Sandra J. Rosenthal

J Neurosci. 2012 Jun 27; 32(26): 8919–8929. doi: 10.1523/JNEUROSCI.0048-12.2012

PMCID:: PMC3426861

Abstract Article PDF–2.7M

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